AutismKB 2.0

Annotation Detail for ARHGEF2


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Basic Information Top
Gene Symbol:ARHGEF2 ( DKFZp547L106,DKFZp547P1516,FLJ45440,GEF,GEF-H1,GEFH1,KIAA0651,LFP40,P40 )
Gene Full Name: Rho/Rac guanine nucleotide exchange factor (GEF) 2
Band: 1q22
Quick LinksEntrez ID:9181; OMIM: 607560; Uniprot ID:ARHG2_HUMAN; ENSEMBL ID: ENSG00000116584; HGNC ID: 682
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal35 / 336030710
ovarian tumor6 / 7668278
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain7 / 11009896
cervix1 / 4817120
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart3 / 8962633
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary7 / 10205168
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209435_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts396.5
Adipocyte211
AdrenalCortex58.35
Adrenalgland102.35
Amygdala217.1
Appendix150.25
AtrioventricularNode168.6
BDCA4+_DentriticCells237.7
Bonemarrow289.05
BronchialEpithelialCells88.65
CD105+_Endothelial207.6
CD14+_Monocytes420.4
CD19+_BCells(neg._sel.)399.7
CD33+_Myeloid414.35
CD34+449.5
CD4+_Tcells379.3
CD56+_NKCells333.15
CD71+_EarlyErythroid607.3
CD8+_Tcells316.1
CardiacMyocytes178.25
Caudatenucleus350.8
Cerebellum334.3
CerebellumPeduncles285.15
CiliaryGanglion68.4
CingulateCortex288.55
Colorectaladenocarcinoma99.75
DorsalRootGanglion94.4
FetalThyroid151
Fetalbrain254.55
Fetalliver113.35
Fetallung250.85
GlobusPallidus123.15
Heart203.8
Hypothalamus332.8
Kidney88.25
Leukemia_chronicMyelogenousK-562308
Leukemia_promyelocytic-HL-60165.05
Leukemialymphoblastic(MOLT-4)174.25
Liver149.5
Lung264.55
Lymphnode196.45
Lymphoma_burkitts(Daudi)285.7
Lymphoma_burkitts(Raji)197.6
MedullaOblongata342.75
OccipitalLobe315.75
OlfactoryBulb164.3
Ovary99.6
Pancreas103.15
PancreaticIslet121.4
ParietalLobe369.85
Pituitary165.6
Placenta188.2
Pons214.05
PrefrontalCortex361
Prostate84.55
Salivarygland89.05
SkeletalMuscle105.35
Skin120.8
SmoothMuscle213.5
Spinalcord415.05
SubthalamicNucleus158.2
SuperiorCervicalGanglion177.8
TemporalLobe207.95
Testis138.3
TestisGermCell119.45
TestisIntersitial91.15
TestisLeydigCell129.15
TestisSeminiferousTubule137.9
Thalamus268.95
Thymus251.65
Thyroid172.75
Tongue106.1
Tonsil200.75
Trachea102.05
TrigeminalGanglion150.4
Uterus109
UterusCorpus148.85
WholeBlood608.2
Wholebrain411.85
colon102
pineal_day58.12
pineal_night49.92
retina245.35
small_intestine91
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8958_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala5.33 ± 0.28
Basal Forebrain5.07 ± 0.37
Basal Part of Pons5.25 ± 0.79
Cerebellar Cortex5.02 ± 0.37
Cerebellar Nuclei5.15 ± 0.7
Claustrum5.16 ± 0.74
Epithalamus4.54 ± 0.73
Frontal Lobe4.99 ± 0.44
Globus Pallidus5.39 ± 0.64
Hypothalamus3.93 ± 0.56
Insula4.76 ± 0.72
Limbic Lobe5.28 ± 0.54
Mesencephalon4.89 ± 0.82
Myelencephalon5.13 ± 0.62
Occipital Lobe5.63 ± 0.54
Parietal Lobe5.2 ± 0.45
Pontine Tegmentum5.27 ± 0.54
Striatum6.05 ± 0.53
Subthalamus5.26 ± 0.36
Temporal Lobe5.09 ± 0.52
Thalamus5.17 ± 0.54
White Matter6.68 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef2CBCerebellum64.58
62.97
Arhgef2CTXCerebral cortex99.78
83.26
Arhgef2HIPHippocampal region79.58
88.28
Arhgef2HPFHippocampal formation82.43
82.23
Arhgef2HYHypothalamus48.48
34.53
Arhgef2LSXLateral septal complex62.72
50.24
Arhgef2MBMidbrain62.19
53.79
Arhgef2MYMedulla63.89
66.51
Arhgef2OLFOlfactory bulb100
90.13
Arhgef2PPons67.21
66.42
Arhgef2PALPallidum50.71
47.58
Arhgef2RHPRetrohippocampal region88.04
74.72
Arhgef2sAMYStriatum-like amygdalar nuclei51.88
35.96
Arhgef2STRStriatum84.16
68.66
Arhgef2STRdStriatum dorsal region89.28
71.55
Arhgef2STRvStriatum ventral region89.25
71.36
Arhgef2THThalamus80.12
76.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARHG2_HUMAN_149 20 149 168 SVSTTNIAGHFNDESPLGLR PRIDE
ARHG2_HUMAN_611 27 611 637 VGLFAEMTHFQAEEDGGSGMALPTLPR PRIDE
ARHG2_HUMAN_681 25 681 705 EPALPLEPDSGGNTSPGVTANGEAR PRIDE
ARHG2_HUMAN_799 10 799 808 QATELALLQR PRIDE
ARHG2_HUMAN_809 10 809 818 QHALLQEELR PRIDE
PAp00003933 23 400 422 ILQHSHGIEEERQDLTTALGLVK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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